基因名 突变
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17263305G>A,c.1130G>A,p.R377H
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17263290G>A,c.1115G>A,p.R372Q
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17263277G>A,c.1102G>A,p.E368K
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17263214C>T,c.1039C>T,p.R347W
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17263161C>T,c.986C>T,p.A329V
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17257870G>A,c.934G>A,p.E312K
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17257840C>G,c.904C>G,p.Q302E
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17257061G>T,c.821G>T,p.R274L
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17257059C>G,c.819C>G,p.H273Q
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17257042C>T,c.802C>T,p.R268C
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17257039T>A,c.799T>A,p.C267S
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17257012C>T,c.772C>T,p.R258X
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17256784A>G,c.625A>G,p.T209A
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17256783C>A,c.624C>A,p.D208E
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17256695G>A,c.614G>A,p.R205Q
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17256626A>G,c.545A>G,p.Q182R
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17256459G>A,c.470G>A,p.R157H
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17250856C>T,c.233C>T,p.S78L
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17249170A>G,c.73A>G,p.S25G
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17248532A>G,c.19A>G,p.R7G
CRNN(NM_016190,cornulin,495aa) g.1:152384630G>A,c.80C>T,p.A27V
CRNN(NM_016190,cornulin,495aa) g.1:152383410C>G,c.148G>C,p.D50H
CRNN(NM_016190,cornulin,495aa) g.1:152383406G>A,c.152C>T,p.P51L
CRNN(NM_016190,cornulin,495aa) g.1:152383382C>T,c.176G>A,p.R59H
CRNN(NM_016190,cornulin,495aa) g.1:152382654C>T,c.904G>A,p.V302M
CRNN(NM_016190,cornulin,495aa) g.1:152382600A>T,c.958T>A,p.S320T
CRNN(NM_016190,cornulin,495aa) g.1:152382436C>G,c.1122G>C,p.Q374H
CRNN(NM_016190,cornulin,495aa) g.1:152382312C>T,c.1246G>A,p.E416K
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org